Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11017928
rs11017928
DOCK1
1 1.000 0.120 10 127409786 intron variant G/A snv 9.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12547243
rs12547243
ADCY8
1 1.000 0.120 8 130909710 splice region variant A/G snv 0.64 0.58 0.700 1.000 1 2018 2018
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs74643788
rs74643788
XYLT1
1 1.000 0.120 16 17268972 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs56979833
rs56979833 		1 1.000 0.120 15 30008518 intron variant A/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs1385794215
rs1385794215
DMD
1 1.000 0.120 X 31147289 stop gained G/A;T snv 5.5E-06 0.700 1.000 3 1998 2011
dbSNP: rs1060502625
rs1060502625
DMD
1 1.000 0.120 X 31147347 frameshift variant C/- delins 0.700 0
dbSNP: rs878854366
rs878854366
DMD
1 1.000 0.120 X 31169486 frameshift variant CT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886043375
rs886043375
DMD
2 0.925 0.120 X 31169543 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1060502630
rs1060502630
DMD
1 1.000 0.120 X 31169589 frameshift variant -/TT delins 0.700 0
dbSNP: rs1556028034
rs1556028034
DMD
1 1.000 0.120 X 31172375 frameshift variant T/- delins 0.700 0
dbSNP: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs1556035795
rs1556035795
DMD
1 1.000 0.120 X 31177956 frameshift variant A/- del 0.700 0
dbSNP: rs1556035817
rs1556035817
DMD
1 1.000 0.120 X 31177964 splice acceptor variant ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- delins 0.700 1.000 2 2006 2014
dbSNP: rs398123832
rs398123832
DMD
3 0.882 0.160 X 31178721 stop gained G/A snv 0.700 0
dbSNP: rs104894790
rs104894790
DMD
2 0.925 0.160 X 31178751 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs104894787
rs104894787
DMD
3 0.882 0.160 X 31178784 stop gained G/A snv 0.700 0
dbSNP: rs886042840
rs886042840
DMD
2 0.925 0.120 X 31178789 inframe deletion TCT/- delins 0.700 0
dbSNP: rs398123828
rs398123828
DMD
1 1.000 0.120 X 31180369 splice donor variant C/A;T snv 0.700 0
dbSNP: rs398123827
rs398123827
DMD
1 1.000 0.120 X 31180423 stop gained G/A snv 0.700 1.000 3 2000 2013
dbSNP: rs1556040444
rs1556040444
DMD
1 1.000 0.120 X 31180482 splice acceptor variant C/T snv 0.700 1.000 4 2006 2017
dbSNP: rs104894789
rs104894789
DMD
1 1.000 0.120 X 31182784 stop gained G/A snv 0.700 0
dbSNP: rs1556046080
rs1556046080
DMD
1 1.000 0.120 X 31182822 frameshift variant GGGCAGCCAC/- delins 0.700 0
dbSNP: rs398124105
rs398124105
DMD
2 0.925 0.120 X 31182849 frameshift variant CATCCAGTCT/- delins 0.700 0
dbSNP: rs1060502653
rs1060502653
DMD
1 1.000 0.120 X 31204113 splice acceptor variant TCTACAAAGG/- delins 0.700 0